A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046463



Internal ID18788994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24385498..24763917hg38UCSC Ensembl
Innerchr12:24538432..24916851hg19UCSC Ensembl
Innerchr12:24429699..24808118hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38378420
hg19378420
hg18378420
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3512984
Samples
Known GenesLINC00477, SOX5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046463
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer